Radiographic occult cerebellar germinoma presenting with progressive ataxia and cranial nerve palsy.
Radiographic occult cerebellar germinoma presenting with progressive ataxia and cranial nerve palsy.
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DOI：
10.1186/s12883-015-0516-9
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发表时间：
2016-01-12
期刊：
影响因子：
2.6
通讯作者：
Kohmura E
中科院分区：
文献类型：
--
作者：
Minami N;Tanaka K;Kimura H;Hirose T;Mori T;Maeyama M;Sekiya H;Uenaka T;Nakamizo S;Nagashima H;Mizukawa K;Itoh T;Sasayama T;Kohmura E
虽然磁共振加权成像（SWI）检测基底节生殖细胞瘤的有用性已被报道，该技术并没有被广泛使用。我们最近遇到一个罕见的原发性小脑生殖细胞瘤的病例，表现为进行性共济失调和颅神经麻痹，其特征是逐渐扩大的低信号病变可见的两个T2* 加权成像（T2*WI），这是诊断的关键。一名30岁的男子被转介到我们的医院，因为缓慢进行性头晕和轻度共济失调。磁共振成像（MRI）显示左侧小脑脚T2*WI和SWI上有一个小的低信号点，无强化。脑血管造影显示无血管异常。血清甲胎蛋白值正常。类固醇脉冲作为治疗和诊断试验，但症状改善不大。患者出院，但很快出现脑干功能障碍，表现为呼吸困难或打嗝，并再次入院。T2*WI成像显示小脑和脑干内扩大和延伸的斑点状病变，这些病变先前未经造影剂增强。对新增强的小脑病变进行靶向立体定向活检;组织病理学检查显示为单纯生殖细胞瘤。血清和脑脊液中β-人绒毛膜促性腺激素值未显著升高。开始卡铂和依托泊苷化疗。增强的病变迅速消失，但由于呼吸肌麻痹，患者继续需要辅助自动通气。我们的结论是，扩大的低信号病灶在T2*WI和SWI可能是一个可靠的线索，诊断生殖细胞瘤，无论其位置，即使没有增强。在早期阶段进行肿瘤活检是做出结论性诊断并迅速开始治疗的唯一方法。本文的在线版本（doi：10.1186/s12883-015-0516-9）包含补充材料，可供授权用户使用。
Although the usefulness of susceptibility-weighted imaging (SWI) for detecting basal ganglia germinoma has been reported, the technique is not widely used. We recently encountered an unusual case of primary cerebellar germinoma, presenting with progressive ataxia and cranial nerve palsy, characterized by gradually enlarging low-intensity lesions visible with both T2*-weighted imaging (T2*WI), which were the key to the diagnosis. A 30-year-old man was referred to our hospital because of slowly progressive dizziness and mild ataxia. Magnetic resonance imaging (MRI) revealed a small, low-intensity spot in the left cerebellar peduncle on the T2*WI and SWI without enhancement. Cerebral angiography revealed no vascular abnormality. The serum α-fetoprotein value was normal. A steroid-pulse was administered as a therapeutic and diagnostic trial, but the symptoms improved little. The patient was discharged from the hospital but soon developed brainstem dysfunction, characterized by dyspnea or hiccups, and he was readmitted. T2*WI imaging revealed expanded and extended spotty lesions in the cerebellum and brainstem, which had not enhanced with contrast agent previously. Targeted stereotactic biopsy of the newly enhanced cerebellar lesion was performed; histopathological examination of the tissue revealed pure germinoma. Serum and cerebral spinal fluid values of beta-human chorionic gonadotropin were not significantly elevated. Chemotherapy with carboplatin and etoposide was initiated. The enhanced lesion disappeared promptly, but the patient continued to require assisted automatic ventilation because of paralysis of respiratory muscles. We conclude that enlarging low-intensity lesions on T2*WI and SWI may be a reliable clue to the diagnosis of germinomas, irrespective of their location, even without enhancement. Biopsy of the tumor at an early stage is the only way to make the diagnosis conclusively and enable prompt start of treatment. The online version of this article (doi:10.1186/s12883-015-0516-9) contains supplementary material, which is available to authorized users.